Linked Data
ClinVar Variation Id:
67469
ClinVar RCV Id:
RCV000058197
RCV000454975
RCV000795860
RCV001548137
RCV001841742
RCV002477190
RCV004019014
dbSNP Id:
rs199473022
ExAC:
7:150644461 C / T
gnomAD v2:
7-150644461-C-T
gnomAD v3:
7-150947373-C-T
gnomAD v4:
7-150947373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947373C>T , CM000669.2:g.150947373C>T | GRCh38 |
| NC_000007.13:g.150644461C>T , CM000669.1:g.150644461C>T | GRCh37 |
| NC_000007.12:g.150275394C>T | NCBI36 |
| NG_008916.1:g.35554G>A , LRG_288:g.35554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3940G>A | ||
| ENST00000262186.10:c.3107G>A MANE Select | ENSP00000262186.5:p.Gly1036Asp | |
| ENST00000330883.9:c.2087G>A | ENSP00000328531.4:p.Gly696Asp | |
| ENST00000262186.9:c.3107G>A | ENSP00000262186.5:p.Gly1036Asp | |
| ENST00000330883.8:c.2087G>A | ENSP00000328531.4:p.Gly696Asp | |
| NM_000238.3:c.3107G>A , LRG_288t1:c.3107G>A | NP_000229.1:p.Gly1036Asp | |
| NM_172057.2:c.2087G>A , LRG_288t3:c.2087G>A | NP_742054.1:p.Gly696Asp | |
| XM_011516185.1:c.2807G>A | XP_011514487.1:p.Gly936Asp | |
| XM_011516185.2:c.2807G>A | XP_011514487.1:p.Gly936Asp | |
| XM_017012195.1:c.2957G>A | XP_016867684.1:p.Gly986Asp | |
| XM_017012196.1:c.2930G>A | XP_016867685.1:p.Gly977Asp | |
| NM_000238.4:c.3107G>A MANE Select | NP_000229.1:p.Gly1036Asp | |
| NM_172057.3:c.2087G>A | NP_742054.1:p.Gly696Asp |